Characteristics of the test: (includes 30 genes)

Basic characteristics of the clinical phenotype:
Hereditary macular dystrophies (MD) comprise a heterogeneous group of diseases characterized by macular damage. Macular degeneration is accompanied by progressive loss of visual acuity, color vision impairment and central scotoma.

Reasons for referring:
All patients with symptoms of macular degeneration. This test is also offered to MD patients in whom no mutations have been found.

Interpretation of results:
· Detection of point mutations and small deletions/insertions in genes from the panel will allow a genetic diagnosis of Macular Degeneration.
· Presence of large deletions and insertions cannot be detected by this method. A combination with a suitable CNV analysis (MLPA, aCGH) is recommended for their detection.
· The genetic counselor will interpret and answer all questions about your result.

Method: Next Generation Sequencing (NGS).
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of the target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine the carrier status in cases where the mutation is known (Test #182).

Sensitivity of the method: depends on the content of GC and AT, as well as the presence of segmentally duplicated genes.

What does the test involve?
· DNA isolation and sample storage.
· Parallel sequencing of target genes.
· Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.
· Forming a written result of the genetic test.
· Diagnostic interpretation of results and genetic counseling.

Biological material: Venous blood or DNA

For more information, please read the "Biological material requirements and shipping information" carefully.